| H00662 | |
| H number | H00662 |
| Name | Ectopia lentis |
| Description | Ectopia lentis (EL) is defined as displacement or malposition of the crystalline lens of the eye and is inherited in either autosomal recessive or autosomal dominant manner. Subluxation of the lens is slowly progressive in the first two decades of life. EL may occur as an isolated form or as a part of disorders. Up to about 80% of Marfan syndrome (MFS) patients have bilateral EL. |
| Category | Congenital malformation |
| Network | - |
| Gene | (ECTOL1) FBN1 [HSA:2200] [KO:K06825] (ECTOL2) ADAMTSL4 [HSA:54507] [KO:K23369] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | For Marfan syndrome, see H00653. |
| Other DBs | ICD-11: LA12.Y ICD-10: Q12.1 MeSH: D004479 OMIM: 129600 225100 |
| Reference | PMID:14502058 AUTHORS Young TL TITLE Ophthalmic genetics/inherited eye disease. JOURNAL Curr Opin Ophthalmol 14:296-303 (2003) DOI:10.1097/00055735-200310000-00011 PMID:7802039 AUTHORS Edwards MJ, Challinor CJ, Colley PW, Roberts J, Partington MW, Hollway GE, Kozman HM, Mulley JC TITLE Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1. JOURNAL Am J Med Genet 53:65-71 (1994) DOI:10.1002/ajmg.1320530114 PMID:15054843 (ECTOL1) AUTHORS Ades LC, Holman KJ, Brett MS, Edwards MJ, Bennetts B TITLE Ectopia lentis phenotypes and the FBN1 gene. JOURNAL Am J Med Genet A 126A:284-9 (2004) DOI:10.1002/ajmg.a.20605 PMID:19200529 (ECTOL2) AUTHORS Ahram D, Sato TS, Kohilan A, Tayeh M, Chen S, Leal S, Al-Salem M, El-Shanti H TITLE A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis. JOURNAL Am J Hum Genet 84:274-8 (2009) DOI:10.1016/j.ajhg.2009.01.007 |